Kwanghyuk Lee
Baylor College of Medicine(US)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Connective tissue disorders research, Skin and Cellular Biology Research, RNA and protein synthesis mechanisms, RNA Research and Splicing
Most-Cited Works
- → COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis(2015)389 cited
- → Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89(2013)112 cited
- → Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86(2014)86 cited
- → Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss(2018)85 cited
- → Mutational Spectrum ofMYO15Aand the Molecular Mechanisms of DFNB3 Human Deafness(2016)84 cited
- → Mutation of ATF6 causes autosomal recessive achromatopsia(2015)82 cited
- → LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections(2018)64 cited
- → Molecular mechanisms involved in progesterone receptor regulation of uterine function(2006)62 cited
- → SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium(2019)62 cited
- → Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish(2014)60 cited